World Down Syndrome Day: Early screening, inclusivity key to build better future, says expert

Awareness, especially in rural areas, is key promoting an inclusive space for those diagnosed with Down Syndrome, PGI expert Inusha Panigrahi, Genetic Metabolic Unit, Department of Paediatrics said ahead of World Down Syndrome Day (WDSD) marked on March 21,

An expert in dysmorphology, thalassemia/hemoglobinopathies, metabolic disorders, skeletal dysplasia and fetal medicine, Panigrahi explained that the day serves as a powerful reminder of the importance of acceptance and equal opportunities for all. She explains that the triplication of the 21st chromosome — the genetic cause of Down syndrome — is definitely on the decline. Earlier, it had a frequency of one in 800 but it has come down to one in 1,000. There is, however, still a need to propagate awareness and screening among pregnant women especially in rural regions, the expert noted.

According to her, children with Down syndrome often demonstrate a unique ability to learn and adapt when provided with the right societal support and training.

“The extra chromosome influences development, but it does not define the potential of a person with Down Syndrome. While every child is unique and may have varying levels of intellectual and developmental challenges, they generally show strengths in social interaction, imitation, and visual learning, which makes them more responsive to structured teaching and training compared to some other developmental disabilities,” she added.

Experts opine that with early intervention, inclusive education and access to healthcare, individuals with Down syndrome can thrive and contribute meaningfully to society. Medical advances and better understanding of Down Syndrome have increased life expectancy and quality of life for individuals with the condition.

Dr Jasmin Surana, MD Biochemistry and Consultant Biochemist, Metropolis Healthcare Ltd, shared, “Early screening plays a crucial role in managing the condition. Tests like First Trimester Screening and Non-Invasive Prenatal Testing help detect Down Syndrome during pregnancy, allowing parents to prepare for specialised care and medical support. Diagnostic tests like amniocentesis and chorionic villus sampling provide a definitive diagnosis.”

Understanding the condition

Down Syndrome is a genetic condition, where a child is born with an extra copy of chromosome 21 (the smallest human chromosome). Such children have 47 chromosomes in total instead of the usual 46, which results in intellectual and developmental delays in a child. Among the most common medical problems associated with Down Syndrome are cardiac defects, hypothyroidism and an increased risk of infections.

Improving the Support System

Experts opine that setting up a “Centre of Excellence for Down Syndrome” will help in catering to this specific condition in paediatrics in a special way. “Also, Group Home like the one set up in Sector 31 help in attending adults with Down Syndrome in better way. But if these centres offer other facilities including physical therapy, speech therapy, and occupational therapy working together with healthcare professionals, it can significantly improve developmental outcomes,” opines Panigrahi. In many ways, it could serve as one-stop solution for people with an array of intellectual disabilities.